| Mutation ID |
26 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121578800:121578800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000377071 |
| Start |
121442478:121442489(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2952_2963delCAAGCGGCCCCC |
| AA Mutation |
p.Lys985_Pro988del(p.K985_P988del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KDM2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121445397:121445397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782589352
|
| CDS Mutation |
c.1981G>A |
| AA Mutation |
p.Val661Met(p.V661M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121440951:121440951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3475T>G |
| AA Mutation |
p.Cys1159Gly(p.C1159G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121442692:121442692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2749G>A |
| AA Mutation |
p.Ala917Thr(p.A917T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121443786:121443786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782072876
|
| CDS Mutation |
c.2459C>T |
| AA Mutation |
p.Ser820Leu(p.S820L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121534529:121534529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.745T>C |
| AA Mutation |
p.Ser249Pro(p.S249P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121453171:121453171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1908C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121442819:121442819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782132703
|
| CDS Mutation |
c.2622C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|